Sociedade Portuguesa de Genética Humana recognizes young i3S researchers
Researchers Rita Barbosa-Matos and Fátima Lopes were recently recognized by the Sociedade Portuguesa de Genética Humana (SPGH - Portuguese Society of Human Genetics) at its 25th Annual Meeting and awarded with the “Prof. Amândio Tavares for Young Researchers” and “Best Clinical Research” prizes respectively.
The project of Rita Barbosa-Matos, a BiotechHealth doctoral student developing research in the i3S group “Expression Regulation in Cancer”, led by Carla Oliveira, focuses on the study of a group of nine families from Porto that have Hereditary Diffuse Gastric Cancer Syndrome (HDGC). In this work, she explains, “we have identified and characterized a series of families that carry the same pathogenic variant in the CDH1 gene that encodes the E-Cadherin protein (responsible for keeping the epithelial cells connected to each other, preventing them from dividing in an uncontrolled manner and from encroaching on other tissues and organs). Using the analysis of genetic material from more than 100 people from these families, we proved that this disease-causing variant originated in the district of Porto, since all tested carriers derive from a common ancestor”.
The young researcher stresses that the collaboration between i3S researchers and health professionals and researchers from the Centro Hospitalar Universitário São João (CHUSJ) “has made it possible to improve the early diagnosis of stomach and breast cancer in individuals from these families through intensive surveillance and timely treatment of earlier cancers”. This approach, she adds, “has translated into greater survival, disease prevention and a better quality of life for the members of these families”.
For Rita Barbosa-Matos it is a “pride and an honor” to have been recognized as having the “best presentation in the field of clinical research or laboratory genetic diagnosis”. “I am very grateful to the entire research team and to SPGH for the award, and for the opportunity to publicize this team work and for its excellent role in encouraging national scientific communication in the field of human genetics”.
Pathogenic variants for severe recessive diseases
The work presented by Fátima Lopes at the 25th Annual Meeting of the SPGH focuses on determining the number and impact of pathogenic variants in heterozygosity, in genes associated with recessive diseases (autosomal or linked to the X chromosome), in patients studied at CGPP - Centro of Predictive and Preventive Genetics, which is part of the i3S. “The identification of these variants, managed in a genetic counseling consultation, constitutes an asset for patients and their family”, she emphasizes.
In this research, in which investigator Jorge Oliveira is the last author, 1,567 consecutive genetic tests performed between January 2019 and August 2021 at the CGPP were reviewed. The rate of detection of these secondary findings, says researcher Fátima Lopes, “was 20% (n=329 individuals), with an average of 1.94 variants/case, ranging from one to six per person. Carriers were identified for diseases such as cystic fibrosis, Wilson's disease, and phenylketonuria, among the most prevalent in the population”.
“Each person is potentially a carrier of several pathogenic variants associated with recessive diseases. These are often found, incidentally, when applying massive sequencing techniques in parallel, such as complete exome sequencing. The technique has been used at CGPP since 2016, for the diagnosis of various genetic diseases, through multigene panels or mendelioma (clinical exome)”, explains Fátima Lopes.
The CGPP already has data from more than 7,200 exomes, which could become a reference sample of the Portuguese population, thus helping to explore the number and nature of variants for recessive diseases in our population. In this context, the CGPP is developing, with other national centers, the “reproSCREEN” project, which aims to provide a national program for preconception carrier screening for recessive diseases in couples, with the aim of increasing their reproductive options and minimizing the impact of these diseases. One of its components is the development of a genetic test - PreConcecional+ - for all people or couples who wish to be informed about the risk of having variants for serious recessive diseases.
The awarding of this work by SPGH, underlines Fátima Lopes, “is an honor for us and reflects the differentiation and dedication of the CGPP team, over more than two decades, in the provision of clinical and laboratory services in the area of medical genetics”.